JIMD Reports, Volume 34

Front Matter....Pages i-vi
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype....Pages 1-9
Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs....Pages 11-18
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014....Pages 19-26
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion....Pages 27-32
Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review....Pages 33-42
Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen....Pages 43-47
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients....Pages 49-54
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency....Pages 55-61
Delayed Infusion Reactions to Enzyme Replacement Therapies....Pages 63-70
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder....Pages 71-75
Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria....Pages 77-86
Table of Phenylalanine Content of Foods: Comparative Analysis of Data Compiled in Food Composition Tables....Pages 87-96
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein Intolerance....Pages 97-104
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis....Pages 105-109
Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency....Pages 111-115